Retinoblastoma Biomarker Study

Brief Title

Retinoblastoma Biomarker Study

Official Title

Retinoblastoma Biomarker Study

Brief Summary

      Retinoblastoma is a rare pediatric ocular tumor caused by germline and/or somatic mutations
      in the tumor suppressor gene RB1. Survivors of retinoblastoma, particularly those with the
      hereditary form of the disease (germline RB1 mutations) are highly susceptible to developing
      additional malignancies, which are a major cause of morbidity and mortality. Since 1984, REB
      has followed a cohort of 2136 (including 1,995 one-year) retinoblastoma survivors to
      investigate the contributions of treatment and genetic risk factors to second cancer
      etiology. The last systematic follow-up for second cancer incidence and cause-specific
      mortality was completed in 2009. As the cohort ages, we now propose to conduct another
      interview survey to collect information on newly diagnosed second cancers. Additionally, we
      propose to expand collection of germline DNA for additional molecular studies in survivors.
      Retinoblastoma survivors have now entered adult ages when epithelial tumors would be expected
      to occur with greater frequency. Given that the somatic mutations in the RB1 pathway have
      been identified in several epithelial tumors (bladder, brain, breast, esophagus, liver, lung,
      prostate) in addition to sarcomas, it is important to collect new information on these
      epithelial tumors, and to investigate whether the previously identified high risks of
      sarcomas and melanoma will persist as the cohort ages. Additionally, our understanding of
      genetic susceptibility to second cancers is limited. Given that this is the only cohort of
      long-term survivors of retinoblastoma being followed in the U.S., combined with the
      leadership role of REB in the study of second cancers, continued follow-up of this cohort
      will provide unique clinical and epidemiologic data on the long-term cumulative risk of
      second cancers in this distinctive cohort of childhood cancer survivors.
    

Detailed Description

      Retinoblastoma is a rare pediatric ocular tumor caused by germline and/or somatic mutations
      in the tumor suppressor gene RB1. Survivors of retinoblastoma, particularly those with the
      hereditary form of the disease (germline RB1 mutations) are highly susceptible to developing
      additional malignancies, which are a major cause of morbidity and mortality. Since 1984, REB
      has followed a cohort of 2136 (including 1,995 one-year) retinoblastoma survivors to
      investigate the contributions of treatment and genetic risk factors to second cancer
      etiology. The last systematic follow-up for second cancer incidence and cause-specific
      mortality was completed in 2009. As the cohort ages, we now propose to conduct another
      interview survey to collect information on newly diagnosed second cancers. Additionally, we
      propose to expand collection of germline DNA for additional molecular studies in survivors.
      Retinoblastoma survivors have now entered adult ages when epithelial tumors would be expected
      to occur with greater frequency. Given that the somatic mutations in the RB1 pathway have
      been identified in several epithelial tumors (bladder, brain, breast, esophagus, liver, lung,
      prostate) in addition to sarcomas, it is important to collect new information on these
      epithelial tumors, and to investigate whether the previously identified high risks of
      sarcomas and melanoma will persist as the cohort ages. Additionally, our understanding of
      genetic susceptibility to second cancers is limited. Given that this is the only cohort of
      long-term survivors of retinoblastoma being followed in the U.S., combined with the
      leadership role of REB in the study of second cancers, continued follow-up of this cohort
      will provide unique clinical and epidemiologic data on the long-term cumulative risk of
      second cancers in this distinctive cohort of childhood cancer survivors.
    

Study Type

Observational

Primary Outcome

Mutation in RB1 gene

Condition

Retinoblastoma

Study Arms / Comparison Groups

 Retinoblastoma cohort

Description:  Retinoblastoma patients treated at two hospitals in New York and one hospital in Boston from 1914-2006.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Estimated Enrollment

2136

Start Date

November 17, 1993

Eligibility Criteria

        -  INCLUSION CRITERIA:

        Children treated for retroblastoma over the past 30-plus years.
      

Gender

All

Ages

7 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Lindsay M Morton, Ph.D., , 

Location Countries

United States

Location Countries

United States

NCT ID

NCT00342797

Organization ID

999993033

Secondary IDs

OH93-NC-N033

Responsible Party

Sponsor

Study Sponsor

National Cancer Institute (NCI)

Study Sponsor

Lindsay M Morton, Ph.D., Principal Investigator, National Cancer Institute (NCI)

Verification Date

January 30, 2023